Haemoglobinopathies in Southeast Asia.

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dc.contributor.authorFucharoen, Suthat
dc.contributor.authorWinichagoon, Pranee
dc.date.accessioned2012-01-10T06:50:36Z
dc.date.available2012-01-10T06:50:36Z
dc.date.issued2011-10
dc.description.abstractIn Southeast Asia α-thalassaemia, β-thalassaemia, haemoglobin (Hb) E and Hb Constant Spring (CS) are prevalent. The abnormal genes in different combinations lead to over 60 different thalassaemia syndromes, making Southeast Asia the locality with the most complex thalassaemia genotypes. The four major thalassaemic diseases are Hb Bart's hydrops fetalis (homozygous α-thalassaemia 1), homozygous β-thalassaemia, β-thalassaemia/Hb E and Hb H diseases. α-Thalassaemia, most often, occurs from gene deletions whereas point mutations and small deletions or insertions in the β-globin gene sequence are the major molecular defects responsible for most β-thalassaemias. Clinical manifestations of α-thalassaemia range from asymptomatic cases with normal findings to the totally lethal Hb Bart's hydrops fetalis syndrome. Homozygosity of β-thalassaemia results in a severe thalassaemic disease while the patients with compound heterozygosity, β-thalassaemia/Hb E, present variable severity of anaemia, and some can be as severe as homozygous β-thalassaemia. Concomitant inheritance of α-thalassaemia and increased production of Hb F are responsible for mild clinical phenotypes in some patients. However, there are still some unknown factors that can modulate disease severity in both α- and β-thalassaemias. Therefore, it is possible to set a strategy for prevention and control of thalassaemia, which includes population screening for heterozygotes, genetic counselling and foetal diagnosis with selective abortion of affected pregnancies.en_US
dc.identifier.citationFucharoen Suthat, Winichagoon Pranee. Haemoglobinopathies in Southeast Asia. Indian Journal of Medical Research. 2011 Oct; 134(4): 498-506.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/136351
dc.language.isoenen_US
dc.source.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3237250/en_US
dc.subjectα-thalassaemiaen_US
dc.subjectβ-thalassaemiaen_US
dc.subjecthaemoglobin (Hb) Een_US
dc.subjectHb constant spring (CS)en_US
dc.subject.meshAsia, Southeastern --epidemiology
dc.subject.meshGene Deletion
dc.subject.meshHemoglobin E --genetics
dc.subject.meshHemoglobins, Abnormal --genetics
dc.subject.meshHumans
dc.subject.meshPoint Mutation
dc.subject.meshalpha-Thalassemia --diagnosis
dc.subject.meshalpha-Thalassemia --epidemiology
dc.subject.meshalpha-Thalassemia --genetics
dc.subject.meshalpha-Thalassemia --therapy
dc.subject.meshbeta-Globins --genetics
dc.subject.meshbeta-Thalassemia --diagnosis
dc.subject.meshbeta-Thalassemia --epidemiology
dc.subject.meshbeta-Thalassemia --genetics
dc.subject.meshbeta-Thalassemia --therapy
dc.titleHaemoglobinopathies in Southeast Asia.en_US
dc.typeArticleen_US
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